A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789482



Internal ID19861533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43445140..43673043hg38UCSC Ensembl
chr2:43672279..43900182hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38227904
hg19227904
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4335534
Supporting Variants
Samples
Known GenesPLEKHH2, THADA
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15789482
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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